Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699341 | SCV000828047 | likely benign | Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to | 2023-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533554 | SCV003689737 | uncertain significance | Inborn genetic diseases | 2022-07-20 | criteria provided, single submitter | clinical testing | The c.1238G>A (p.R413H) alteration is located in exon 8 (coding exon 8) of the LMNB2 gene. This alteration results from a G to A substitution at nucleotide position 1238, causing the arginine (R) at amino acid position 413 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |